MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY | |
ATP SYNTHASE DEFICIENCY | |
604273
OMIM = Online Mendelian Inheritance of Men | |
254913 | |
ATP synthase mitochondrial F1 complex assembly factor 2 | |
17p11.2 |
|
E88.8 | |
rare autosomal recessive mutation in the ATPAF2 gene | |
Laboratory findings | L-Lactic acid inc (plasma) 3-Methylglutaconic acid normal/inc (urine) |
Symptoms | cardiomegaly cardiomyopathy lactic acidosis cardiomyopathy, hypertrophic dysmorphism epilepsy failure to thrive hypotonia intrauterine growth retardation psychomotor retardation small for gestational age (SGA), intrauterine growth retardation (IUGR) early death hepatomegaly (large liver) hyperammonemia microcephaly (<2 SD for age) onset, childhood onset, infancy seizures short stature |